Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q161*
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ATM

NM_000051.4:p.Q161*

Associated Papers

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

Wen H et al.

Jama Network Open, 2023

37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Kortuem KM et al.

Blood Cancer Journal, 2016

26918361 (PubMed )
Supplement: bcj20161x1.pdf

ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region.

Pan-Hammarström Q et al.

Journal of Immunology (baltimore, Md. : 1950), 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."